ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.2769G>A (p.Gly923=)

dbSNP: rs748086542
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002069424 SCV002415478 likely benign not provided 2021-08-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278177 SCV001465173 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-10-12 no assertion criteria provided clinical testing

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